Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
1 to 10 of 10  Show
  1. 1
    "Novel mutation in EDARADD gene in an Indian patient with anhidrotic ectodermal dysplasia."
    Tamhankar P.M.
    Submitted (MAY-2011) to the EMBL/GenBank/DDBJ databases
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).
  2. 2
    "Gene defect in ectodermal dysplasia implicates a DEATH domain adapter in development."
    Headon D.J., Emmal S.A., Ferguson B.M., Tucker A.S., Justice M.J., Sharpe P.T., Zonana J., Overbeek P.A.
    Nature 414:913-916(2001) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: interacts with the death domain of Edar and links the receptor to downstream signalling pathways.
    Source: GeneRIF:128178.

    This publication is cited by 1 and mapped to 23 other entries.

  3. 3
    "Identification of a novel DEATH domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice."
    Yan M., Zhang Z., Brady J.R., Schilbach S., Fairbrother W.J., Dixit V.M.
    Curr. Biol. 12:409-413(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Interaction.
    Annotation: crinkled binds EDAR through a homotypic death domain interaction and mediates engagement of the NF-kappaB pathway possibly by recruiting TRAF2 to the receptor-signaling complex.
    Source: GeneRIF:128178.

    This publication is cited by 2 and mapped to 6 other entries.

  4. 4
    "Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases."
    Chassaing N., Cluzeau C., Bal E., Guigue P., Vincent M.C., Viot G., Ginisty D., Munnich A., Smahi A., Calvas P.
    Br. J. Dermatol. 162:1044-1048(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Results demonstrate that EDARADD mutations are not a frequent cause of hypohidrotic ectodermal dysplasia while mutations in TRAF6 TAB2 and TAK1 may not be implicated in this disease.
    Source: GeneRIF:128178.

    This publication is mapped to 4 other entries.

  5. 5
    Category: Sequences.
    Annotation: The phenotypes associated with EDA1 EDAR and EDARADD mutations were indistinguishable.
    Source: GeneRIF:128178.

    This publication is cited by 3 and mapped to 7 other entries.

  6. 6
    "Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes."
    Bergendal B., Klar J., Stecksen-Blicks C., Norderyd J., Dahl N.
    Am J Med Genet A 155A:1616-1622(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: a cohort of 93 Swedish probands with non-syndromic isolated oligodontia mutations were identified in the EDARADD) AXIN2 MSX1 and PAX9 genes.
    Source: GeneRIF:128178.

    This publication is mapped to 114 other entries.

  7. 7
    "A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population."
    Liu H., Zhang J., Song S., Zhao H., Han D., Feng H.
    Eur J Oral Sci 120:378-385(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: The study data demonstrate an association between SNP rs3916983 of the EDARADD gene and non-syndromic hypodontia in Chinese Han individuals.
    Source: GeneRIF:128178.

    This publication is mapped to 13 other entries.

  8. 8
    "A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia."
    Wohlfart S., Soder S., Smahi A., Schneider H.
    Am J Med Genet A 170A:249-253(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: detected a novel missense mutation c.367G>A (p.Asp123Asn) in the death domain of the gene EDARADD which co-segregated with hypohidrotic ectodermal dysplasia in the affected family. This mutation led to an impaired ability of EDARADD to activate NF-kappaB signaling.
    Source: GeneRIF:128178.

    This publication is mapped to 3 other entries.

  9. 9
    "First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia."
    Cluzeau C., Marrakchi S., Picard C., Munnich A., Smahi A., Turki H.
    J Eur Acad Dermatol Venereol 33:e55-e57(2019) [PubMed] [Europe PMC] [Abstract]
    Annotation: report a mutation consisting of the first gross deletion identified in this gene (c.131-?_189+?del) with a recessive mode of inheritance.
    Source: GeneRIF:128178.

    This publication is mapped to 3 other entries.

  10. 10
    Annotation: study conducted to date in the Spanish population affected by ED. The EDA EDAR EDARADD and WNT10A genes constitute the molecular basis in 70.8% of patients with a 74.6% yield in Hypohidrotic ectodermal dysplasia and 44.4% in non-syndromic tooth agenesis.
    Source: GeneRIF:128178.

    This publication is mapped to 10 other entries.

1 to 10 of 10  Show
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again